mortality/aging
• 7 of 10 mice die at birth with uninflated lungs and the remaining die within hours of respiratory insufficiency
|
cardiovascular system
N |
• unlike in other splotched mutants, mice exhibit normal outflow tract development
|
• dilated at E16.5
|
• the caval veins are overextended
|
• mice that live a few hours beyond birth exhibit a large opening in the right tricuspid valve
|
• mice exhibit either thickened or thinned interventricular septum
|
• VSDs occur in the wall overlying the muscular part of the septum, some of which were present at the position where the
septum attaches to the interventricular groove
|
• at E16.5, the ventricular septum is thickened compared to in wild-type mice
|
• in mice that live a few hours beyond birth
|
• despite normal outflow tract, mice exhibit congestive heart failure indicated by a blood engorged liver
|
muscle
• mice exhibit abnormal diaphragm and tongue musculature
• however, limb musculature develops normally
|
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5
|
• at E16.5, the muscles of the diaphragm is underdeveloped with fibers being both shorter and thinner than in wild-type mice and possessing gaps in the musculature
• however, diaphragm musculature is normal at E13.5
|
nervous system
• caudal neural tube outgrowths are present in 10% of mice
|
spina bifida
(
J:79365
)
• in 10% of mice
|
exencephaly
(
J:79365
)
• in 10% of mice
|
respiratory system
• 7 of 10 mice exhibit compact alveoli indicating a failure to inflate
|
• in mice that live a few hours beyond birth
|
homeostasis/metabolism
hematopoietic system
• the right and left lobes exhibit an abnormal, more caudal location
|
• mutant thymus has an abnormal, more caudal location
|
neoplasm
N |
• unlike in t(2;13) translocations that place FOXO1A under the control of the PAX3 promoter in humans, mice exhibit no signs of tumorigenesis
|
immune system
• the right and left lobes exhibit an abnormal, more caudal location
|
• mutant thymus has an abnormal, more caudal location
|
embryo
• caudal neural tube outgrowths are present in 10% of mice
|
spina bifida
(
J:79365
)
• in 10% of mice
|
craniofacial
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5
|
digestive/alimentary system
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5
|
endocrine/exocrine glands
• the right and left lobes exhibit an abnormal, more caudal location
|
• mutant thymus has an abnormal, more caudal location
|
growth/size/body
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5
|